Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Stern-Schneider, Gabi, Nuernberg, Peter, Karnati, Srikanth ORCID: 0000-0001-9083-2916, Swan, Daniel ORCID: 0000-0001-8978-8129, Fateen, Ekram ORCID: 0000-0002-0777-0417, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I., Thiele, Holger, Wolfrum, Uwe, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Bolz, Hanno J. (2016). PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum. Mutat., 37 (2). S. 170 - 175. HOBOKEN: WILEY. ISSN 1098-1004

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Abstract

Deafblindness is part of several genetic disorders. We investigated a consanguineous Egyptian family with two siblings affected by congenital hearing loss and retinal degeneration, initially diagnosed as Usher syndrome type 1. At teenage, severe enamel dysplasia, developmental delay, and microcephaly became apparent. Genome-wide homozygosity mapping and whole-exome sequencing detected a homozygous missense mutation, c.1238G>T (p.Gly413Val), affecting a highly conserved residue of peroxisomal biogenesis factor 6, PEX6. Biochemical profiling of the siblings revealed abnormal and borderline plasma phytanic acid concentration, and cerebral imaging revealed white matter disease in both. We show that Pex6 localizes to the apical extensions of secretory ameloblasts and differentiated odontoblasts at early stages of dentin synthesis in mice, and to cilia of retinal photoreceptor cells. We propose PEX6, and possibly other peroxisomal genes, as candidate for the rare cooccurrence of deafblindness and enamel dysplasia. Our study for the first time links peroxisome biogenesis disorders to retinal ciliopathies. (C) 2015 Wiley Periodicals, Inc.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Zaki, Maha S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heller, RaoulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thoenes, MichaelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, GudrunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stern-Schneider, GabiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Karnati, SrikanthUNSPECIFIEDorcid.org/0000-0001-9083-2916UNSPECIFIED
Swan, DanielUNSPECIFIEDorcid.org/0000-0001-8978-8129UNSPECIFIED
Fateen, EkramUNSPECIFIEDorcid.org/0000-0002-0777-0417UNSPECIFIED
Nagel-Wolfrum, KerstinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mostafa, Mostafa I.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wolfrum, UweUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Baumgart-Vogt, EvelineUNSPECIFIEDorcid.org/0000-0002-8265-3763UNSPECIFIED
Bolz, Hanno J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-285450
DOI: 10.1002/humu.22934
Journal or Publication Title: Hum. Mutat.
Volume: 37
Number: 2
Page Range: S. 170 - 175
Date: 2016
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1098-1004
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
PEROXISOME BIOGENESIS DISORDERS; ADULT REFSUM-DISEASE; USHER-SYNDROME; RETINAL DEGENERATION; CONNECTING CILIUM; MOUSE; GENE; OXIDATION; THERAPY; CELLSMultiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/28545

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